Canonical Allele Identifier: PA2826212500
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251376
ClinVar RCV Id: RCV000237604
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp183_Asp186dup
CA10585066
NM_001195799.2:c.549_560dup